Espnl-KO Mouse

Espnl, also known as espin-like, is a protein-coding gene with important functions in biological processes. It is a cargo of myosin-III motors and is involved in the regulation of stereocilia length in hair cells, which is crucial for normal hearing as it helps establish the characteristic staircase-like structure of stereocilia in the inner ear [1].

In a study on mice, eliminating espin-1 (an isoform of ESPN) and ESPNL, which are myosin-III cargos, was found to dramatically alter the slope of the stereocilia staircase in a subset of hair cells, indicating their essential role in this process [1]. Another study identified ESPNL as a putative candidate susceptibility gene for epithelial ovarian cancer through expression quantitative trait locus analysis in 404 high-grade serous ovarian cancer tissues [2].

In conclusion, ESPNL is essential for normal hearing by influencing the structure of hair cell stereocilia. Additionally, it may be associated with epithelial ovarian cancer, as suggested by genetic analysis. The study of ESPNL in mouse models has provided insights into its functions in these biological and disease-related processes.

References:

1. Ebrahim, Seham, Avenarius, Matthew R, Grati, M'hamed, Barr-Gillespie, Peter G, Kachar, Bechara. 2016. Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like. In Nature communications, 7, 10833. doi:10.1038/ncomms10833. https://pubmed.ncbi.nlm.nih.gov/26926603/

2. Lawrenson, Kate, Song, Fengju, Hazelett, Dennis J, Gayther, Simon A, Goodman, Marc T. 2019. Genome-wide association studies identify susceptibility loci for epithelial ovarian cancer in east Asian women. In Gynecologic oncology, 153, 343-355. doi:10.1016/j.ygyno.2019.02.023. https://pubmed.ncbi.nlm.nih.gov/30898391/